Canonical Allele Identifier: CA63825094
Gene:

Linked Data

dbSNP Id: rs11889031
gnomAD v2: 2-204799394-C-T
gnomAD v3: 2-203934671-C-T
gnomAD v4: 2-203934671-C-T
MyVariant Identifiers: chr2:g.204799394C>T (hg19) chr2:g.203934671C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203934671C>T , CM000664.2:g.203934671C>T GRCh38
NC_000002.11:g.204799394C>T , CM000664.1:g.204799394C>T GRCh37
NC_000002.10:g.204507639C>T NCBI36
NG_011586.1:g.2892C>T , LRG_65:g.2892C>T

Transcript Alleles

HGVS Amino-acid change
XR_427213.2:n.460+1437G>A
XR_001739861.1:n.1597G>A
XR_427213.3:n.474+1437G>A
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